CAST[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1289047	NC_000005.10:g.96661874_96661875insCAGA	CAST	Insertion	not provided	GBenign
Select item 1902207	NM_001750.7(CAST):c.74A>C (p.Glu25Ala)	CAST (E25A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1274367	NM_001750.7(CAST):c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC	CAST	Insertion (intron variant)	not provided	GBenign
Select item 1247631	NM_001750.7(CAST):c.75+157GCAGGTGGCT[3]	CAST	Microsatellite (intron variant)	not provided	GBenign
Select item 1247873	NM_001750.7(CAST):c.75+190C>T	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264856	NM_001750.7(CAST):c.75+271G>A	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229291	NM_001750.7(CAST):c.76-220T>C	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178477	NM_001750.7(CAST):c.139-254A>G	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1951098	NM_001750.7(CAST):c.167_168delinsGG (p.Gln56Arg)	CAST (Q41R +1 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1192696	NM_001750.7(CAST):c.168A>G (p.Gln56=)	CAST	Single nucleotide variant (synonymous variant +1 more)	Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome +1 more	GBenign
Select item 2957582	NM_001750.7(CAST):c.210+11T>C	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282014	NM_001750.7(CAST):c.210+216G>T	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2784786	NM_001750.7(CAST):c.211-5T>C	CAST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2614911	NM_001750.7(CAST):c.230C>G (p.Ala77Gly)	CAST (A77G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3038957	NM_001750.7(CAST):c.270+8G>A	CAST	Single nucleotide variant (intron variant)	CAST-related disorder	GLikely benign
Select item 1634694	NM_001750.7(CAST):c.270+19_270+33del	CAST	Deletion (intron variant)	not provided	GLikely benign
Select item 1270998	NM_001750.7(CAST):c.270+237TTGTT[6]	CAST	Microsatellite (intron variant)	not provided	GBenign
Select item 1287556	NM_001750.7(CAST):c.336+54C>T	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260567	NM_001750.7(CAST):c.337-236T>C	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3137698	NM_001750.7(CAST):c.337G>C (p.Ala113Pro)	CAST (A113P +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2191275	NM_001750.7(CAST):c.358AAG[1] (p.Lys121del)	CAST (K121del +5 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 720265	NM_001750.7(CAST):c.378+9T>C	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261635	NM_001750.7(CAST):c.378+268A>G	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296751	NM_001750.7(CAST):c.379-224A>C	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251790	NM_001750.7(CAST):c.379-142A>T	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2581758	NM_001750.7(CAST):c.454C>T (p.Gln152Ter)	CAST (Q111* +10 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 752240	NM_001750.7(CAST):c.477C>T (p.Asn159=)	CAST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2056776	NM_001750.7(CAST):c.479A>T (p.Asp160Val)	CAST (D104V +10 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3036793	NM_001750.7(CAST):c.495A>G (p.Lys165=)	CAST	Single nucleotide variant (synonymous variant)	CAST-related disorder	GLikely benign
Select item 1585718	NM_001750.7(CAST):c.516A>G (p.Glu172=)	CAST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 189335	NM_001750.7(CAST):c.547A>T (p.Lys183Ter)	CAST (K142* +10 more)	Single nucleotide variant (nonsense)	Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome	GPathogenic
Select item 1286199	NM_001750.7(CAST):c.549+207A>G	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266031	NM_001750.7(CAST):c.549+233C>T	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266274	NM_001750.7(CAST):c.550-118C>A	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1599522	NM_001750.7(CAST):c.558A>G (p.Pro186=)	CAST	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1492002	NM_001750.7(CAST):c.568A>G (p.Ile190Val)	CAST (I107V +10 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3263508	NM_001750.7(CAST):c.587G>A (p.Ser196Asn)	CAST (S181N +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2665035	NM_001750.7(CAST):c.587G>T (p.Ser196Ile)	CAST (S113I +10 more)	Single nucleotide variant (missense variant +1 more)	Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome	GUncertain significance
Select item 2885944	NM_001750.7(CAST):c.621G>A (p.Pro207=)	CAST	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1239484	NM_001750.7(CAST):c.630+12C>G	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264261	NM_001750.7(CAST):c.630+88C>T	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277198	NM_001750.7(CAST):c.631-96A>G	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220977	NM_001750.7(CAST):c.631-35A>G	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1553985	NM_001750.7(CAST):c.631-15C>A	CAST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1944296	NM_001750.7(CAST):c.648A>G (p.Ser216=)	CAST	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 784053	NM_001750.7(CAST):c.663G>T (p.Val221=)	CAST	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2864530	NM_001750.7(CAST):c.672A>C (p.Glu224Asp)	CAST (E183D +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2174011	NM_001750.7(CAST):c.692C>T (p.Ser231Leu)	CAST (S126L +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 715715	NM_001750.7(CAST):c.693G>A (p.Ser231=)	CAST	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2571227	NM_001750.7(CAST):c.694G>T (p.Gly232Ter)	CAST (G108* +10 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1231098	NM_001750.7(CAST):c.699+213A>T	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177939	NM_001750.7(CAST):c.699+219AAAC[2]	CAST	Microsatellite (intron variant)	not provided	GBenign
Select item 189334	NM_001750.7(CAST):c.730dup (p.Ile244fs)	CAST (I203fs +11 more)	Duplication (frameshift variant)	Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome	GPathogenic
Select item 2220817	NM_001750.7(CAST):c.756A>C (p.Glu252Asp)	CAST (E128D +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1547937	NM_001750.7(CAST):c.775A>G (p.Thr259Ala)	CAST (T104A +11 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1397835	NM_001750.7(CAST):c.820A>G (p.Ile274Val)	CAST (I169V +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3052139	NM_001750.7(CAST):c.879+10A>G	CAST	Single nucleotide variant (intron variant)	CAST-related disorder	GLikely benign
Select item 1520016	NM_001750.7(CAST):c.887A>G (p.Glu296Gly)	CAST (E194G +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2054351	NM_001750.7(CAST):c.917C>T (p.Ser306Leu)	CAST (S269L +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1274351	NM_001750.7(CAST):c.918G>A (p.Ser306=)	CAST	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1667261	NM_001750.7(CAST):c.925A>C (p.Ile309Leu)	CAST (I154L +16 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2392828	NM_001750.7(CAST):c.943A>G (p.Ile315Val)	CAST (I232V +16 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2718808	NM_001750.7(CAST):c.954G>A (p.Leu318=)	CAST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1669421	NM_001750.7(CAST):c.963C>T (p.Asp321=)	CAST	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2326303	NM_001750.7(CAST):c.965T>A (p.Phe322Tyr)	CAST (F220Y +16 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3017806	NM_001750.7(CAST):c.969C>T (p.Thr323=)	CAST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1582604	NM_001750.7(CAST):c.978G>A (p.Ser326=)	CAST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1438775	NM_001750.7(CAST):c.986C>G (p.Ala329Gly)	CAST (A174G +16 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2905661	NM_001750.7(CAST):c.1011G>A (p.Glu337=)	CAST	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2731136	NM_001750.7(CAST):c.1012-16G>A	CAST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1570061	NM_001750.7(CAST):c.1012-15T>C	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2599097	NM_001750.7(CAST):c.1042G>T (p.Ala348Ser)	CAST (A243S +16 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312151	NM_001750.7(CAST):c.1088A>G (p.Lys363Arg)	CAST (K226R +16 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1241904	NM_001750.7(CAST):c.1099-50G>A	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221320	NM_001750.7(CAST):c.1099-22C>G	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2957984	NM_001750.7(CAST):c.1099-19G>T	CAST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1620586	NM_001750.7(CAST):c.1099-6T>C	CAST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3046165	NM_001750.7(CAST):c.1122C>T (p.Leu374=)	CAST	Single nucleotide variant (synonymous variant)	CAST-related disorder	GLikely benign
Select item 1556034	NM_001750.7(CAST):c.1133C>T (p.Ser378Leu)	CAST (S223L +16 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3053083	NM_001750.7(CAST):c.1134G>A (p.Ser378=)	CAST	Single nucleotide variant (synonymous variant)	CAST-related disorder	GLikely benign
Select item 2879603	NM_001750.7(CAST):c.1152G>A (p.Arg384=)	CAST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2212195	NM_001750.7(CAST):c.1153C>A (p.Gln385Lys)	CAST (Q230K +16 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3362485	NM_001750.7(CAST):c.1174dup (p.Leu392fs)	CAST (L237fs +16 more)	Duplication (frameshift variant)	Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome	GLikely pathogenic
Select item 790564	NM_001750.7(CAST):c.1178G>A (p.Arg393His)	CAST (R337H +16 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1964007	NM_001750.7(CAST):c.1183A>G (p.Ile395Val)	CAST (I240V +16 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3137691	NM_001750.7(CAST):c.1195G>A (p.Asp399Asn)	CAST (D262N +16 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1982308	NM_001750.7(CAST):c.1200+4C>T	CAST	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1286778	NM_001750.7(CAST):c.1200+82C>T	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266205	NM_001750.7(CAST):c.1200+242A>G	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2665036	NM_001750.7(CAST):c.1200+911C>A	CAST	Single nucleotide variant (non-coding transcript variant +1 more)	Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome	GUncertain significance
Select item 1244512	NM_001750.7(CAST):c.1201-221G>T	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 791137	NM_001750.7(CAST):c.1207G>C (p.Ala403Pro)	CAST (A266P +16 more)	Single nucleotide variant (missense variant +1 more)	Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome +1 more	GBenign
Select item 711433	NM_001750.7(CAST):c.1242T>A (p.Asp414Glu)	CAST (D290E +16 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2382778	NM_001750.7(CAST):c.1276C>T (p.Pro426Ser)	CAST (P271S +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264486	NM_001750.7(CAST):c.1280C>T (p.Ala427Val)	CAST (A395V +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 790565	NM_001750.7(CAST):c.1283C>T (p.Thr428Met)	CAST (T273M +16 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2080680	NM_001750.7(CAST):c.1284+10T>C	CAST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249890	NM_001750.7(CAST):c.1284+272C>T	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2299475	NM_001750.7(CAST):c.1315C>G (p.Pro439Ala)	CAST (P321A +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2494478	NM_001750.7(CAST):c.1331A>G (p.Lys444Arg)	CAST (K320R +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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